Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. (Q47753816)

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English	Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

2

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Neslihan Edeer Karaca

1

object named as

Neslihan Edeer Karaca

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

3

object named as

Ferah Genel

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Necil Kutukculer

10

object named as

Necil Kutukculer

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

author name string

Nesrin Gulez

4

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Sema Can

5

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Yesim Aydinok

6

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Serap Aksoylar

7

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Emin Karaca

8

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Imren Altuglu

9

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

publication date

21 May 2009

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

Clinical and Experimental Medicine

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

9

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

4

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

339-342

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

https://scigraph.springernature.com/pub.10.1007/s10238-009-0053-1

0 references

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAG-dependent primary immunodeficiencies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

V(D)J recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

RAG mutations in human B cell-negative SCID.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

European experience of bone-marrow transplantation for severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial V(D)J recombination activity leads to Omenn syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

B-cell recovery after stem cell transplantation of Artemis-deficient SCID requires elimination of autologous bone marrow precursor-B-cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19458910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10238-009-0053-1

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/19458910

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